NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760474.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)]

NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)
HGVS:
  • NC_000005.10:g.13721014G>A
  • NG_013081.2:g.228467C>T
  • NM_001369.3:c.12265C>TMANE SELECT
  • NP_001360.1:p.Gln4089Ter
  • NP_001360.1:p.Gln4089Ter
  • NC_000005.9:g.13721123G>A
  • NM_001369.2:c.12265C>T
Protein change:
Q4089*
Links:
dbSNP: rs1060501456
NCBI 1000 Genomes Browser:
rs1060501456
Molecular consequence:
  • NM_001369.3:c.12265C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000890363GeneDxcriteria provided, single submitter
Likely pathogenic
(Oct 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000890363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q4089X variant in the DNAH5 gene has been reported in the heterozygous state with a second loss-of-function variant in an individual with primary ciliary dyskinesia, however, the phase of these variants was not confirmed, and additional clinical information was not provided (Raidt et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q4089X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q4089X as a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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